ABCA4 c.3278A>G ;(p.D1093G)

Variant ID: 1-94508367-T-C

NM_000350.2(ABCA4):c.3278A>G;(p.D1093G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Genetic Testing And Molecular Biomarkers
Ramkumar, Hema L HL; Gudiseva, Harini V HV; Kishaba, Kameron T KT; Suk, John J JJ; Verma, Rohan R; Tadimeti, Keerti K; Thorson, John A JA; Ayyagari, Radha R
Publication Date: 2017-02

Variant appearance in text: rs61752418
PubMed Link: 28005406
Variant Present in the following documents:
  • Main text
View BVdb publication page